ZNF462 (zinc finger protein 462)

Gene

• Entrez ID: 58499
• Gene name: Zinc finger protein 462
• Gene symbol: ZNF462
• Synonyms (NCBI Gene): WSKA, ZFPIP, Zfp462
• Disease Acronyms (UniProt): WSKA
• Chromosome: 9
• Chromosome location: 9q31.2
• Summary: The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding diff

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs562767308	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1060499549	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1060499550	TG>A	Pathogenic	Coding sequence variant, frameshift variant
rs1060499551	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1176008720	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, intron variant
rs1554703226	ACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554703536	->AA	Pathogenic	Coding sequence variant, stop gained
rs1564106503	CCT>TGGTG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1588062809	C>T	Pathogenic	Stop gained, coding sequence variant
rs1588063241	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1588064794	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588065447	CCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588067098	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588070867	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1588073071	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1588136019	->G	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044512	hsa-miR-320a	CLASH	23622248
MIRT038241	hsa-miR-330-5p	CLASH	23622248
MIRT714762	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT714761	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT714760	hsa-miR-129-5p	HITS-CLIP	19536157
MIRT714762	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT714761	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT714760	hsa-miR-129-5p	HITS-CLIP	19536157
MIRT1525649	hsa-miR-1208	CLIP-seq
MIRT1525650	hsa-miR-1272	CLIP-seq
MIRT1525651	hsa-miR-1297	CLIP-seq
MIRT1525652	hsa-miR-1470	CLIP-seq
MIRT1525653	hsa-miR-26a	CLIP-seq
MIRT1525654	hsa-miR-26b	CLIP-seq
MIRT1525655	hsa-miR-3156-3p	CLIP-seq
MIRT1525656	hsa-miR-3194-5p	CLIP-seq
MIRT1525657	hsa-miR-4287	CLIP-seq
MIRT1525658	hsa-miR-4290	CLIP-seq
MIRT1525659	hsa-miR-4301	CLIP-seq
MIRT1525660	hsa-miR-4464	CLIP-seq
MIRT1525661	hsa-miR-4465	CLIP-seq
MIRT1525662	hsa-miR-4667-3p	CLIP-seq
MIRT1525663	hsa-miR-4685-3p	CLIP-seq
MIRT1525664	hsa-miR-4687-5p	CLIP-seq
MIRT1525665	hsa-miR-4690-3p	CLIP-seq
MIRT1525666	hsa-miR-4699-5p	CLIP-seq
MIRT1525667	hsa-miR-4748	CLIP-seq
MIRT1525668	hsa-miR-532-3p	CLIP-seq
MIRT2158879	hsa-miR-1825	CLIP-seq
MIRT2158880	hsa-miR-342-3p	CLIP-seq
MIRT2158881	hsa-miR-3680	CLIP-seq
MIRT2158882	hsa-miR-377	CLIP-seq
MIRT2158883	hsa-miR-4775	CLIP-seq
MIRT2158884	hsa-miR-4798-3p	CLIP-seq
MIRT1525650	hsa-miR-1272	CLIP-seq
MIRT2378254	hsa-miR-140-3p	CLIP-seq
MIRT2378255	hsa-miR-2115	CLIP-seq
MIRT2378256	hsa-miR-3065-5p	CLIP-seq
MIRT2158880	hsa-miR-342-3p	CLIP-seq
MIRT2158881	hsa-miR-3680	CLIP-seq
MIRT2158882	hsa-miR-377	CLIP-seq
MIRT1525666	hsa-miR-4699-5p	CLIP-seq
MIRT2378257	hsa-miR-4738-3p	CLIP-seq
MIRT2158884	hsa-miR-4798-3p	CLIP-seq
MIRT2378258	hsa-miR-516a-3p	CLIP-seq
MIRT2378259	hsa-miR-587	CLIP-seq
MIRT1525652	hsa-miR-1470	CLIP-seq
MIRT2158879	hsa-miR-1825	CLIP-seq
MIRT2670578	hsa-miR-1910	CLIP-seq
MIRT2670579	hsa-miR-3120-5p	CLIP-seq
MIRT2670580	hsa-miR-3121-3p	CLIP-seq
MIRT1525655	hsa-miR-3156-3p	CLIP-seq
MIRT1525656	hsa-miR-3194-5p	CLIP-seq
MIRT2670581	hsa-miR-3647-3p	CLIP-seq
MIRT2670582	hsa-miR-375	CLIP-seq
MIRT2158882	hsa-miR-377	CLIP-seq
MIRT2670583	hsa-miR-4273	CLIP-seq
MIRT1525657	hsa-miR-4287	CLIP-seq
MIRT1525658	hsa-miR-4290	CLIP-seq
MIRT1525659	hsa-miR-4301	CLIP-seq
MIRT2670584	hsa-miR-4445	CLIP-seq
MIRT2670585	hsa-miR-455-3p	CLIP-seq
MIRT2670586	hsa-miR-4652-3p	CLIP-seq
MIRT1525662	hsa-miR-4667-3p	CLIP-seq
MIRT2670587	hsa-miR-4677-5p	CLIP-seq
MIRT1525663	hsa-miR-4685-3p	CLIP-seq
MIRT1525664	hsa-miR-4687-5p	CLIP-seq
MIRT1525665	hsa-miR-4690-3p	CLIP-seq
MIRT2670588	hsa-miR-4753-3p	CLIP-seq
MIRT2670589	hsa-miR-520f	CLIP-seq
MIRT1525668	hsa-miR-532-3p	CLIP-seq
MIRT2670590	hsa-miR-646	CLIP-seq
MIRT2670591	hsa-miR-942	CLIP-seq
MIRT1525650	hsa-miR-1272	CLIP-seq
MIRT1525652	hsa-miR-1470	CLIP-seq
MIRT2158879	hsa-miR-1825	CLIP-seq
MIRT2670578	hsa-miR-1910	CLIP-seq
MIRT2670579	hsa-miR-3120-5p	CLIP-seq
MIRT2670580	hsa-miR-3121-3p	CLIP-seq
MIRT1525655	hsa-miR-3156-3p	CLIP-seq
MIRT1525656	hsa-miR-3194-5p	CLIP-seq
MIRT2670581	hsa-miR-3647-3p	CLIP-seq
MIRT2670582	hsa-miR-375	CLIP-seq
MIRT2158882	hsa-miR-377	CLIP-seq
MIRT2670583	hsa-miR-4273	CLIP-seq
MIRT1525657	hsa-miR-4287	CLIP-seq
MIRT1525658	hsa-miR-4290	CLIP-seq
MIRT1525659	hsa-miR-4301	CLIP-seq
MIRT2670584	hsa-miR-4445	CLIP-seq
MIRT2670585	hsa-miR-455-3p	CLIP-seq
MIRT2670586	hsa-miR-4652-3p	CLIP-seq
MIRT1525662	hsa-miR-4667-3p	CLIP-seq
MIRT2670587	hsa-miR-4677-5p	CLIP-seq
MIRT1525663	hsa-miR-4685-3p	CLIP-seq
MIRT1525664	hsa-miR-4687-5p	CLIP-seq
MIRT1525665	hsa-miR-4690-3p	CLIP-seq
MIRT1525666	hsa-miR-4699-5p	CLIP-seq
MIRT2378257	hsa-miR-4738-3p	CLIP-seq
MIRT2670588	hsa-miR-4753-3p	CLIP-seq
MIRT2670589	hsa-miR-520f	CLIP-seq
MIRT1525668	hsa-miR-532-3p	CLIP-seq
MIRT2670590	hsa-miR-646	CLIP-seq
MIRT2670591	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	27705803, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0006325	Process	Chromatin organization	IEA
GO:0010468	Process	Regulation of gene expression	IBA	21873635
GO:0043392	Process	Negative regulation of DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 617371
• HGNC: 21684
• e!Ensembl: ENSG00000148143

Protein

• UniProt ID: Q96JM2
• Protein name: Zinc finger protein 462 (Zinc finger PBX1-interacting protein) (ZFPIP)
• Protein function: Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4,
• PDB: 1X6F
• Sequence:

  MEVLQCDGCDFRAPSYEDLKAHIQDVHTAFLQPTDVAEDNVNELRCGSVNASNQTEVEFS
  SIKDEFAIAEDLSGQNATSLGTGGYYGHSPGYYGQHIAANPKPTNKFFQCKFCVRYFRSK
  NLLIEHTRKVHGAQAEGSSSGPPVPGSLNYNIMMHEGFGKVFSCQFCTYKSPRRARIIKH
  QKMYHKNNLKETTAPPPAPAPMPDPVVPPVSLQDPCKELPAEVVERSILESMVKPLTKSR
  GNFCCEWCSYQTPRRERWCDHMMKKHRSMVKILSSLRQQQEGTNLPDVPNKSAPSPTSNS
  TYLTMNAASREIPNTTVSNFRGSMGNSIMRPNSSASKFSPMSYPQMKPKSPHNSGLVNLT
  ERSRYGMTDMTNSSADLETNSMLNDSSSDEELNEIDSENGLSAMDHQTSGLSAEQLMGSD
  GNKLLETKGIPFRRFMNRFQCPFCPFLTMHRRSISRHIENIHLSGKTAVYKCDECPFTCK
  SSLKLGAHKQCHTGTTSDWDAVNSQSESISSSLNEGVVSYESSSINGRKSGVMLDPLQQQ
  QPPQPPPPPPPPPPSQPQPLQQPQPPQLQPPHQVPPQPQTQPPPTQQPQPPTQAAPLHPY
  KCTMCNYSTTTLKGLRVHQQHKHSFCDNLPKFEGQPSSLPLENETDSHPSSSNTVKKSQT
  SILGLSSKNNFVAKASRKLANDFPLDLSPVKKRTRIDEIASNLQSKINQTKQQEDAVINV
  EDDEEEEEDNEVEIEVELDREEEPTEPIIEVPTSFSAQQIWVRDTSEPQKEPNFRNITHD
  YNATNGAEIELTLSEDEEDYYGSSTNLKDHQVSNTALLNTQTPIYGTEHNSENTDFGDSG
  RLYYCKHCDFNNKSARSVSTHYQRMHPYIKFSFRYILDPNDHSAVYRCLECYIDYTNFED
  LQQHYGEHHPEAMNVLNFDHSDLIYRCRFCSYTSPNVRSLMPHYQRMHPTVKINNAMIFS
  SYVVEQQEGLNTESQTLREILNSAPKNMATSTPVARGGGLPATFNKNTPKTFTPECENQK
  DPLVNTVVVYDCDVCSFASPNMHSVLVHYQKKHPEEKASYFRIQKTMRMVSVDRGSALSQ
  LSFEVGAPMSPKMSNMGSPPPPQPPPPDLSTELYYCKHCSYSNRSVVGVLVHYQKRHPEI
  KVTAKYIRQAPPTAAMMRGVEGPQGSPRPPAPIQQLNRSSSERDGPPVENEMFFCQHCDY
  GNRTVKGVLIHYQKKHRDFKANADVIRQHTATIRSLCDRNQKKPASCVLVSPSNLERDKT
  KLRALKCRQCSYTSPYFYALRKHIKKDHPALKATVTSIMRWAFLDGLIEAGYHCEWCIYS
  HTEPNGLLLHYQRRHPEHYVDYTYMATKLWAGPDPSPPSLTMPAEAKTYRCRDCVFEAVS
  IWDITNHYQAFHPWAMNGDESVLLDIIKEKDAVEKPILSSEELAGPVNCENSIPTPFPEQ
  EAECPEDARLSPEKSLQLASANPAISSTPYQCTVCQSEYNNLHGLLTHYGKKHPGMKVKA
  ADFAQDIDINPGAVYKCRHCPYINTRIHGVLTHYQKRHPSIKVTAEDFVHDVEQSADISQ
  NDVEETSRIFKQGYGAYRCKLCPYTHGTLEKLKIHYEKYHNQPEFDVFSQSPPKLPVPLE
  PEMTTEVSPSQVSITEEEVGEEPVSTSHFSTSHLVSHTVFRCQLCKYFCSTRKGIARHYR
  IKHNNVRAQPEGKNNLFKCALCAYTNPIRKGLAAHYQKRHDIDAYYTHCLAASRTISDKP
  NKVIIPSPPKDDSPQLSEELRRAVEKKKCSLCSFQSFSKKGIVSHYMKRHPGVFPKKQHA
  SKLGGYFTAVYADEHEKPTLMEEEERGNFEKAEVEGEAQEIEWLPFRCIKCFKLSFSTAE
  LLCMHYTDHHSRDLKRDFIILGNGPRLQNSTYQCKHCDSKLQSTAELTSHLNIHNEEFQK
  RAKRQERRKQLLSKQKYADGAFADFKQERPFGHLEEVPKIKERKVVGYKCKFCVEVHPTL
  RAICNHLRKHVQYGNVPAVSAAVKGLRSHERSHLALAMFTREDKYSCQYCSFVSAFRHNL
  DRHMQTHHGHHKPFRCKLCSFKSSYNSRLKTHILKAHAGEHAYKCSWCSFSTMTISQLKE
  HSLKVHGKALTLPRPRIVSLLSSHSHHSSQKATPAEEVEDSNDSSYSEPPDVQQQLNHYQ
  SAALARNNSRVSPVPLSGAAAGTEQKTEAVLHCEFCEFSSGYIQSIRRHYRDKHGGKKLF
  KCKDCSFYTGFKSAFTMHVEAGHSAVPEEGPKDLRCPLCLYHTKYKRNMIDHIVLHREER
  VVPIEVCRSKLSKYLQGVVFRCDKCTFTCSSDESLQQHIEKHNELKPYKCQLCYYETKHT
  EELDSHLRDEHKVSRNFELVGRVNLDQLEQMKEKMESSSSDDEDKEEEMNSKAEDRELMR
  FSDHGAALNTEKRFPCEFCGRAFSQGSEWERHVLRHGMALNDTKQVSREEIHPKEIMENS
  VKMPSIEEKEDDEAIGIDFSLKNETVAICVVTADKSLLENAEAKKE

• Sequence length: 2506

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	29892015
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	14564155
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350	14564155
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	14564155
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	29059373
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	14564155

Unknown
Disease term	Disease name	Evidence	References	Source
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation		29892015	ClinVar
Ptosis	Blepharoptosis, Ptosis		14564155	ClinVar
Atrial Fibrillation	Atrial Fibrillation			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Corpus Callosum	Associate	28513610, 31361404, 39501256
Autism Spectrum Disorder	Associate	31361404
Congenital Abnormalities	Associate	31361404
Craniofacial Abnormalities	Associate	28513610
Craniosynostoses	Associate	28513610, 31361404
Cysts	Associate	39501256
Developmental Disabilities	Associate	28513610, 31361404, 33909591, 36461789
Dwarfism Pituitary	Associate	33975400
Empty Sella Syndrome	Associate	33975400
Facial Pain	Associate	33909591
Hearing Loss Sensorineural	Associate	33909591
Heart Defects Congenital	Associate	31361404
Intellectual Disability	Associate	36461789
Jackson Weiss syndrome	Associate	33909591, 33975400, 36461789, 39501256
Lung Neoplasms	Associate	29059373
Muscle Hypotonia	Associate	31361404
Noonan Syndrome	Associate	31361404
Ovarian Neoplasms	Associate	35735060
Ptosis Hereditary Congenital 2	Associate	28513610, 31361404